Incidental Mutation 'R8853:Vmn2r53'
ID |
675109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r53
|
Ensembl Gene |
ENSMUSG00000096002 |
Gene Name |
vomeronasal 2, receptor 53 |
Synonyms |
EG637908 |
MMRRC Submission |
068675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R8853 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12315737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 694
(V694E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
AlphaFold |
A0A3B2W4A7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170412
AA Change: V694E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126979 Gene: ENSMUSG00000096002 AA Change: V694E
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1 |
A |
T |
6: 48,882,994 (GRCm39) |
Y290F |
probably benign |
Het |
Ap5m1 |
T |
A |
14: 49,311,337 (GRCm39) |
L136M |
possibly damaging |
Het |
Arpp21 |
T |
G |
9: 111,976,516 (GRCm39) |
T322P |
probably damaging |
Het |
Atp6v1c2 |
C |
T |
12: 17,351,148 (GRCm39) |
V128M |
possibly damaging |
Het |
C4b |
A |
G |
17: 34,948,879 (GRCm39) |
V1523A |
possibly damaging |
Het |
Copg2 |
G |
C |
6: 30,803,115 (GRCm39) |
L277V |
probably benign |
Het |
Cyp2b19 |
A |
G |
7: 26,456,645 (GRCm39) |
T12A |
possibly damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,787,024 (GRCm39) |
C115S |
probably damaging |
Het |
Defb35 |
G |
A |
8: 22,430,806 (GRCm39) |
R60Q |
unknown |
Het |
Dlgap3 |
T |
A |
4: 127,088,810 (GRCm39) |
D135E |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,117,645 (GRCm39) |
W2215R |
possibly damaging |
Het |
Eea1 |
G |
C |
10: 95,857,517 (GRCm39) |
A660P |
|
Het |
Egfr |
A |
G |
11: 16,858,885 (GRCm39) |
I955V |
possibly damaging |
Het |
Eif3b |
G |
A |
5: 140,425,774 (GRCm39) |
V655M |
probably damaging |
Het |
Elp3 |
T |
A |
14: 65,815,390 (GRCm39) |
I220F |
probably benign |
Het |
Ern2 |
A |
G |
7: 121,772,967 (GRCm39) |
V550A |
probably damaging |
Het |
Evc |
G |
A |
5: 37,460,647 (GRCm39) |
S857L |
possibly damaging |
Het |
Glt28d2 |
T |
A |
3: 85,779,087 (GRCm39) |
M129L |
probably benign |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,547,726 (GRCm39) |
Y2742N |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,765,979 (GRCm39) |
Q541L |
possibly damaging |
Het |
Myh14 |
G |
A |
7: 44,265,678 (GRCm39) |
T1559I |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,119,744 (GRCm39) |
F783L |
possibly damaging |
Het |
Myrip |
C |
T |
9: 120,290,487 (GRCm39) |
A702V |
probably damaging |
Het |
Ndnf |
C |
A |
6: 65,680,161 (GRCm39) |
Q147K |
probably benign |
Het |
Necab2 |
C |
G |
8: 120,189,339 (GRCm39) |
R170G |
possibly damaging |
Het |
Nfatc4 |
T |
C |
14: 56,063,690 (GRCm39) |
I59T |
probably damaging |
Het |
Nfix |
A |
G |
8: 85,454,276 (GRCm39) |
S211P |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,117,725 (GRCm39) |
Q483L |
possibly damaging |
Het |
Or6k14 |
T |
C |
1: 173,927,861 (GRCm39) |
V279A |
probably damaging |
Het |
Pde4a |
A |
G |
9: 21,106,119 (GRCm39) |
T245A |
possibly damaging |
Het |
Peli2 |
C |
T |
14: 48,493,945 (GRCm39) |
T389M |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,883,744 (GRCm39) |
K638E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,143,679 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,688,967 (GRCm39) |
D67G |
probably damaging |
Het |
Plcl2 |
A |
T |
17: 50,913,884 (GRCm39) |
R298* |
probably null |
Het |
Ppp1r13l |
A |
G |
7: 19,103,893 (GRCm39) |
I125V |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,090,110 (GRCm39) |
V71A |
probably benign |
Het |
Pvr |
A |
G |
7: 19,650,897 (GRCm39) |
V209A |
possibly damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,298,198 (GRCm39) |
L414P |
probably damaging |
Het |
Rasgrp2 |
A |
G |
19: 6,464,855 (GRCm39) |
D601G |
probably damaging |
Het |
Reck |
T |
A |
4: 43,912,089 (GRCm39) |
N199K |
probably benign |
Het |
Rin2 |
G |
T |
2: 145,718,475 (GRCm39) |
A652S |
possibly damaging |
Het |
Rnf34 |
T |
C |
5: 123,002,087 (GRCm39) |
L88P |
possibly damaging |
Het |
Serpina3m |
A |
G |
12: 104,355,914 (GRCm39) |
I194V |
probably benign |
Het |
Spred3 |
A |
G |
7: 28,861,415 (GRCm39) |
S255P |
probably benign |
Het |
Sult2a7 |
A |
G |
7: 14,225,641 (GRCm39) |
|
probably null |
Het |
Synpo2l |
C |
A |
14: 20,711,442 (GRCm39) |
G622C |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,795,382 (GRCm39) |
C582R |
probably damaging |
Het |
Tex261 |
A |
T |
6: 83,750,727 (GRCm39) |
I90N |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,982,439 (GRCm39) |
F100S |
probably damaging |
Het |
Trhde |
G |
A |
10: 114,636,830 (GRCm39) |
P126S |
probably benign |
Het |
Vmn2r54 |
A |
T |
7: 12,349,782 (GRCm39) |
L600Q |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,634,227 (GRCm39) |
C2174Y |
|
Het |
Wee2 |
A |
G |
6: 40,441,200 (GRCm39) |
T502A |
probably benign |
Het |
Zfp112 |
A |
T |
7: 23,823,390 (GRCm39) |
|
silent |
Het |
Zfp40 |
T |
A |
17: 23,394,691 (GRCm39) |
H632L |
possibly damaging |
Het |
Zmynd11 |
T |
C |
13: 9,740,965 (GRCm39) |
S378G |
probably damaging |
Het |
|
Other mutations in Vmn2r53 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01090:Vmn2r53
|
APN |
7 |
12,334,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01997:Vmn2r53
|
APN |
7 |
12,316,373 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02442:Vmn2r53
|
APN |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02449:Vmn2r53
|
APN |
7 |
12,316,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02589:Vmn2r53
|
APN |
7 |
12,315,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02986:Vmn2r53
|
APN |
7 |
12,315,393 (GRCm39) |
unclassified |
probably benign |
|
IGL03064:Vmn2r53
|
APN |
7 |
12,334,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03093:Vmn2r53
|
APN |
7 |
12,334,791 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03244:Vmn2r53
|
APN |
7 |
12,340,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03252:Vmn2r53
|
APN |
7 |
12,340,318 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03264:Vmn2r53
|
APN |
7 |
12,315,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03293:Vmn2r53
|
APN |
7 |
12,332,349 (GRCm39) |
missense |
probably benign |
0.34 |
R0109:Vmn2r53
|
UTSW |
7 |
12,315,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R0453:Vmn2r53
|
UTSW |
7 |
12,316,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0735:Vmn2r53
|
UTSW |
7 |
12,315,707 (GRCm39) |
missense |
probably benign |
|
R0881:Vmn2r53
|
UTSW |
7 |
12,334,859 (GRCm39) |
missense |
probably benign |
0.01 |
R0894:Vmn2r53
|
UTSW |
7 |
12,335,141 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R0974:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R0990:Vmn2r53
|
UTSW |
7 |
12,315,429 (GRCm39) |
missense |
probably benign |
|
R1102:Vmn2r53
|
UTSW |
7 |
12,332,410 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1141:Vmn2r53
|
UTSW |
7 |
12,334,673 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1263:Vmn2r53
|
UTSW |
7 |
12,315,533 (GRCm39) |
missense |
probably benign |
0.41 |
R1343:Vmn2r53
|
UTSW |
7 |
12,318,701 (GRCm39) |
missense |
probably benign |
0.08 |
R1750:Vmn2r53
|
UTSW |
7 |
12,315,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Vmn2r53
|
UTSW |
7 |
12,334,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Vmn2r53
|
UTSW |
7 |
12,332,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2202:Vmn2r53
|
UTSW |
7 |
12,335,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R3707:Vmn2r53
|
UTSW |
7 |
12,315,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4372:Vmn2r53
|
UTSW |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R4615:Vmn2r53
|
UTSW |
7 |
12,316,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4655:Vmn2r53
|
UTSW |
7 |
12,315,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4663:Vmn2r53
|
UTSW |
7 |
12,334,901 (GRCm39) |
missense |
probably benign |
0.21 |
R4708:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
R4710:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
R4774:Vmn2r53
|
UTSW |
7 |
12,334,692 (GRCm39) |
nonsense |
probably null |
|
R4859:Vmn2r53
|
UTSW |
7 |
12,335,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R5061:Vmn2r53
|
UTSW |
7 |
12,315,741 (GRCm39) |
missense |
probably benign |
0.01 |
R5561:Vmn2r53
|
UTSW |
7 |
12,335,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Vmn2r53
|
UTSW |
7 |
12,334,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6004:Vmn2r53
|
UTSW |
7 |
12,316,328 (GRCm39) |
missense |
probably benign |
0.12 |
R6083:Vmn2r53
|
UTSW |
7 |
12,315,808 (GRCm39) |
missense |
probably benign |
|
R6312:Vmn2r53
|
UTSW |
7 |
12,332,566 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6700:Vmn2r53
|
UTSW |
7 |
12,315,633 (GRCm39) |
missense |
probably damaging |
0.96 |
R6783:Vmn2r53
|
UTSW |
7 |
12,335,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Vmn2r53
|
UTSW |
7 |
12,340,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R6889:Vmn2r53
|
UTSW |
7 |
12,335,069 (GRCm39) |
missense |
probably benign |
0.10 |
R6940:Vmn2r53
|
UTSW |
7 |
12,316,343 (GRCm39) |
missense |
probably benign |
0.19 |
R7100:Vmn2r53
|
UTSW |
7 |
12,315,513 (GRCm39) |
nonsense |
probably null |
|
R7174:Vmn2r53
|
UTSW |
7 |
12,315,628 (GRCm39) |
missense |
probably benign |
0.01 |
R7213:Vmn2r53
|
UTSW |
7 |
12,334,983 (GRCm39) |
missense |
probably benign |
0.17 |
R7276:Vmn2r53
|
UTSW |
7 |
12,340,359 (GRCm39) |
missense |
probably damaging |
0.99 |
R7515:Vmn2r53
|
UTSW |
7 |
12,315,846 (GRCm39) |
missense |
probably benign |
0.05 |
R7678:Vmn2r53
|
UTSW |
7 |
12,332,425 (GRCm39) |
missense |
probably benign |
0.04 |
R7714:Vmn2r53
|
UTSW |
7 |
12,340,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Vmn2r53
|
UTSW |
7 |
12,316,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8208:Vmn2r53
|
UTSW |
7 |
12,335,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R8211:Vmn2r53
|
UTSW |
7 |
12,315,843 (GRCm39) |
missense |
probably benign |
0.01 |
R8478:Vmn2r53
|
UTSW |
7 |
12,340,281 (GRCm39) |
missense |
probably benign |
0.01 |
R8924:Vmn2r53
|
UTSW |
7 |
12,334,752 (GRCm39) |
missense |
probably benign |
0.17 |
R8963:Vmn2r53
|
UTSW |
7 |
12,315,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R9042:Vmn2r53
|
UTSW |
7 |
12,315,435 (GRCm39) |
missense |
probably benign |
|
R9076:Vmn2r53
|
UTSW |
7 |
12,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R9407:Vmn2r53
|
UTSW |
7 |
12,335,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R9690:Vmn2r53
|
UTSW |
7 |
12,315,912 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r53
|
UTSW |
7 |
12,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGGATGAAGATGCCAC -3'
(R):5'- TGGTGCTTCTACCTCAGTGG -3'
Sequencing Primer
(F):5'- TGAAGATGCCACCCAGAAG -3'
(R):5'- GGTCCTCATTGCTTCCTTAATACAGG -3'
|
Posted On |
2021-07-15 |